Open Access

Undiagnosed myotonic dystrophy: A case report and literature review

  • Authors:
    • Tomonori Yamada
    • Natsumi Fukano
    • Kentaro Kai
    • Yoshihide Kuribayashi
    • Mika Jikumaru
    • Satoshi Eto
    • Yasushi Kawano
  • View Affiliations

  • Published online on: August 29, 2023     https://doi.org/10.3892/mi.2023.106
  • Article Number: 46
  • Copyright : © Yamada et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].

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Abstract

Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42‑year‑old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15‑cm right ovarian tumor and atelectasis. An abdominal right salpingo‑oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re‑incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700‑1,100 cytosine‑thymine‑guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post‑operative weaning failure.
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September-October 2023
Volume 3 Issue 5

Print ISSN: 2754-3242
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Spandidos Publications style
Yamada T, Fukano N, Kai K, Kuribayashi Y, Jikumaru M, Eto S and Kawano Y: Undiagnosed myotonic dystrophy: A case report and literature review. Med Int 3: 46, 2023
APA
Yamada, T., Fukano, N., Kai, K., Kuribayashi, Y., Jikumaru, M., Eto, S., & Kawano, Y. (2023). Undiagnosed myotonic dystrophy: A case report and literature review. Medicine International, 3, 46. https://doi.org/10.3892/mi.2023.106
MLA
Yamada, T., Fukano, N., Kai, K., Kuribayashi, Y., Jikumaru, M., Eto, S., Kawano, Y."Undiagnosed myotonic dystrophy: A case report and literature review". Medicine International 3.5 (2023): 46.
Chicago
Yamada, T., Fukano, N., Kai, K., Kuribayashi, Y., Jikumaru, M., Eto, S., Kawano, Y."Undiagnosed myotonic dystrophy: A case report and literature review". Medicine International 3, no. 5 (2023): 46. https://doi.org/10.3892/mi.2023.106